When a child is born suffering from symptoms that are associated with a genetic condition, genetic testing can be very valuable to the child and his or her family. Genetic testing for the child can aid the diagnosis. Genetic testing for the parents can help the parents evaluate risks and factors as the family plans and grows. Hundreds of different genetic tests exist to study many of the 20,000-plus genes and include, in a broader sense, a variety of molecular and biochemical tests.
Lab results from any given genetic test are typically presented to a doctor who then interprets the results for the patient. For example, if the raw results indicate a genetic mutation, the doctor may look up whether that mutation has been reported in the literature. Some mutations are published in databases. These databases typically exist as a “flat file” of genetic sequence data, sometimes organized by gene or by disease.
Searching the literature and database is a laborious process. Any given mutation may have several different common names arising from different studies reported in different publications. Databases provide for electronic lookup but are limited by their flat file structures. For example, each known mutation may be stored as its own row in a table. Medical significance often results from certain combinations of mutations. For example, a single nucleotide polymorphism may only be indicative of a disease when a certain deletion is present on the same chromosome. Flat file gene databases generally have no mechanism for storing information about such combinations. Even where a doctor can find database entries for all of the patient's lab results, the doctor may then have to turn back to the literature to research the pathology of the particular combination of results. Thus, even with existing flat file databases, interpreting the results of genetic tests for patient counseling is a slow and imperfect process.